CAP2 p.Ser291fs
c.870del · VCV4845338
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
cardiomyopathy, dilated, 2I
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.045 | GERP -4.1, phastCons 0.95 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CAP2
- Protein
- p.Ser291fs
- Coding
- c.870del
- MANE Select
- NM_006366
- Type
- Deletion
- Location
- chr6:17541014 (GRCh38)
- Structure
- AlphaFold pLDDT 88.01
- Residue 291
- the peptidase s1 domain
Similar variants
- CAP2 p.Cys430fs Pathogenic same condition
- CAP2 p.Arg17His Uncertain significance ★★ ⚠ same condition
- CAP2 p.Arg13Gln Uncertain significance ★ ⚠ same condition
- CAP2 p.Met1Thr Uncertain significance ★ same condition
- CAP2 c.636+1G>A Pathogenic same condition
- CAP2 p.Tyr316Ter Pathogenic same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cap2-p-ser291fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown